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rs104894584

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894584(A;A)
Make rs104894584(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position70175553
GeneKCNJ2
is asnp
is mentioned by
dbSNPrs104894584
ebirs104894584
HLIrs104894584
Exacrs104894584
Varsomers104894584
Maprs104894584
PheGenIrs104894584
hapmaprs104894584
1000 genomesrs104894584
hgdprs104894584
ensemblrs104894584
gopubmedrs104894584
geneviewrs104894584
scholarrs104894584
googlers104894584
pharmgkbrs104894584
gwascentralrs104894584
openSNPrs104894584
23andMers104894584
23andMe allrs104894584
SNP Nexus

SNPshotrs104894584
SNPdbers104894584
MSV3drs104894584
GWAS Ctlgrs104894584
Max Magnitude0
OMIM600681
Desc
Variant0010
Relatedalso
ClinVar
Risk rs104894584(A;A)
Alt rs104894584(A;A)
Reference rs104894584(G;G)
Significance Pathogenic
Disease Short QT syndrome 3 short QT syndrome
Variation info
Gene KCNJ2
CLNDBN Short QT syndrome 3 short QT syndrome
Reversed 0
HGVS NC_000017.10:g.68171694G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000009482.2, RCV000058318.2,


[PMID 15761194] A novel form of short QT syndrome (SQT3) is caused by a mutation in the KCNJ2 gene.